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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
1 OMIM reference -
1 associated gene
35 signs/symptoms
Cleidocranial dysplasia
Genitopatellar syndrome

RUNX2 KAT6B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.7)
KAT6B



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
Genitopatellar syndrome
KAT6B



Cleidocranial dysplasia
Genitopatellar syndrome

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Apnea / sleep apnea
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Short hand / brachydactyly
- Short stature / dwarfism / nanism


Cleidocranial dysplasia
Genitopatellar syndrome

Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Repeat respiratory infections
- Supernumerary teeth / polyodontia
- Wormian bones

Frequent
- Anomalies of ear and hearing
- Anomalies of the ribs
- Chronic / relapsing otitis
- Dental malocclusion
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Sloping forehead
- Small face

Occasional
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- High nasal bridge
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Patella absent / abnormal (excluding luxation)
- Polycystic kidneys
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Corpus callosum / septum pellucidum total / partial agenesis
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Talipes-valgus

Occasional
- Atrial septal defect / interauricular communication
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Insterstitial / subtelomeric microdeletion / deletion
- Radioulnar synostosis